Leptin Receptor Gene Mutations in Polycystic Ovary Syndrome - Genetics of PCOS, Leptin, and PCOS, Mutations in LEPR Gene, Novel SNP in LEPR Gene in 12th Exon, Standardization of LEP,INS, and INSVNTR Genes 14+

📒 Leptin , the product of the ob gene, is a small peptide molecule synthesized by white adipocyte with an imporatnt role in the regulation of body fat and food intake.The presence of leptin and its receptor also detected in the placental tissue during pregnancy. The amount of fat stored is known to influence obesity and fertility, indicating a link between leptin and PCOS. Recent reports suggest the relevance of gene polymorphism in predicating PCOS. The present study was aimed at investigating the genetic relation between the LEPR and PCOS using polymerase chain reaction followed by sequencing. A case-control-based study approach was used, which included 102 controls, 50 lean PCOS and 60 obese PCOS from the Indian women population. A significant difference was found between the genotype frequencies of LEPR and PCOS. Three different mutations were observed in the case samples compared to the control.It shows a significant association between the LEPR and PCOS. I also got a novel SNP in the 12th exon of LEPR. My work also included the standardization of LEP, INS, INSVNTR that are related to the PCOS.